monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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RERE -- case #147

Open pnrobinson opened 2 months ago

pnrobinson commented 2 months ago

Fregeau et al. (2016) suggested that point mutations in the Atrophin1 domain might be associated with a more severe clinical presentation. Our study provides additional evidence in support of this genotype–phenotype correlation.

Use this as a case study. Figure out how to specify the Atrophin1 domain using our API.